Bardet-Biedl Syndrome is a rare, genetic multi-system disorder that affects many systems of the human body. The symptoms vary from individual to individual; they may not be the same even for people belonging to the same family. Common symptoms are rod-cone dystrophy, childhood-onset visual loss and night blindness, truncal obesity and postaxial polydactyly, hypogonadism and genital anomalies and renal abnormalities. Minor symptoms are speech delay, ataxia, poor coordination, deafness and anosmia/hyposmia.
HOW IS BARDET-BIEDL SYNDROME DIAGNOSED?
This syndrome is diagnosed at early childhood by a thorough physical examination and details of other medical related problems like visual problems. The retinal diseases are diagnosed by the ophthalmologist after some tests which include ERG. A genetic testing may be helpful in many cases which is available in research laboratories with a special interest in the disease complex.
HOW IS BARDET-BIEDL SYNDROME TREATED?
The treatment is varies from person to person according to the symptoms. A team of specialists including pediatricians, orthopedic surgeons, cardiologists, dental specialists, speech pathologists, audiologists who assess and treat hearing problems, ophthalmologists who assess and treat vision problems, physicians who specialize in the diagnosis and treatment of kidney diseases (nephrologists), and other healthcare professionals may need to systematically and comprehensively plan an affect the child's treatment.
DID YOU KNOW?
Early intervention is vital for ensuring that children affected with Bardet-Biedl Syndrome progress well.